Long-read sequence confirmed a large deletion of MYH6 and MYH7 in a family with atrial septal defect
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DOI: 10.1093/ehjci/ehaa946.3724
Abstract: Genome structural variants (SVs) have larger effect on human genome functions than single nucleotide variants (SNVs). Although short-read sequencing (SRS) is current major next generation sequencing method and has given us a great benefit to… read more here.
Keywords: myh6; long read; large deletion; deletion myh6 ... See more keywords